{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379131697",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.898G>T (p.Ala300Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=911578[alleleid]",
        "alleleId": 911578,
        "preferredName": "NM_000218.3(KCNQ1):c.898G>T (p.Ala300Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/919940",
        "RCV": [
          "RCV001842731"
        ],
        "variationId": 919940
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2594193G>T?assembly=hg19",
        "id": "chr11:g.2594193G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2572963G>T?assembly=hg38",
        "id": "chr11:g.2572963G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/120074187",
        "rs": 120074187
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2572963-G-T?dataset=gnomad_r4",
        "id": "11-2572963-G-T",
        "variant": "11:2572963 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2572963,
          "referenceAllele": "G",
          "start": 2572962
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2572963G>T",
        "CM000673.2:g.2572963G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2594193,
          "referenceAllele": "G",
          "start": 2594192
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2594193G>T",
        "CM000673.1:g.2594193G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2550769,
          "referenceAllele": "G",
          "start": 2550768
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2550769G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132973,
          "referenceAllele": "G",
          "start": 132972
        }
      ],
      "hgvs": [
        "NG_008935.1:g.132973G>T",
        "LRG_287:g.132973G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Ala213Ser",
        "hgvsWellDefined": "ENSP00000434560.2:p.Ala213Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "endIntronDirection": "-",
          "endIntronOffset": 10471,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "-",
          "startIntronOffset": 10472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.478-10472G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:n.478-10472G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Ala300Ser",
        "hgvsWellDefined": "ENSP00000155840.2:p.Ala300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.898G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.898G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Ala300Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Ala300Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.517G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Ala173Ser",
        "hgvsWellDefined": "ENSP00000334497.5:p.Ala173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 10471,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 10472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.124-10472G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:n.124-10472G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Ala300Ser",
        "hgvsWellDefined": "ENSP00000155840.2:p.Ala300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.517G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Ala173Ser",
        "hgvsWellDefined": "ENSP00000334497.5:p.Ala173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668604",
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.898G>T",
        "LRG_287t1:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Ala300Ser",
        "hgvsWellDefined": "NP_000209.2:p.Ala300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830390004",
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.517G>T",
        "LRG_287t2:c.517G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Ala173Ser",
        "hgvsWellDefined": "NP_861463.1:p.Ala173Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668604",
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Ala300Ser",
        "hgvsWellDefined": "NP_000209.2:p.Ala300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.898G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.898G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Ala300Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Ala300Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}